title: Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: N
authors.initials: N
authors.lastname: Patel
authors.forename: M A
authors.initials: MA
authors.lastname: Salih
authors.forename: M J
authors.initials: MJ
authors.lastname: Alshammari
authors.forename: F
authors.initials: F
authors.lastname: Abdulwahhab
authors.forename: N
authors.initials: N
authors.lastname: Adly
authors.forename: F
authors.initials: F
authors.lastname: Alzahrani
authors.forename: E A
authors.initials: EA
authors.lastname: Elgamal
authors.forename: H Y
authors.initials: HY
authors.lastname: Elkhashab
authors.forename: M
authors.initials: M
authors.lastname: Al-Qattan
authors.forename: F S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D000293:Adolescent; D000483:Alleles; D054119:Arachnodactyly / Q000235:genetics / Q000503:physiopathology*; D016569:Blepharophimosis / Q000235:genetics / Q000503:physiopathology*; D003286:Contracture / Q000235:genetics / Q000503:physiopathology*; D019465:Craniofacial Abnormalities; D019066:Facies; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics / Q000503:physiopathology*; D010375:Pedigree; D012529:Saudi Arabia